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17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Desmoplastic small round cell tumor

2 associated genes
19 signs/symptoms

17q11 microdeletion syndrome

Desmoplastic small round cell tumor

NF1	(UniProt - OMIM)		EWSR1	(UniProt - OMIM)
RNF135	(UniProt - OMIM)		WT1	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12 SUZ12	(0.82) (0.63)	EWSR1 WT1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Desmoplastic small round cell tumor
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - DSRCT

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 1 MeSH reference: D058405

Desmoplastic small round cell tumor
	Very frequent - Acute abdominal pain / colic - Digestive neoplasm / tumor / carcinoma / cancer - Lymphadenopathy / polyadenopathies - Peritoneal diseases - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma Frequent - Hepatomegaly / liver enlargement (excluding storage disease) - Intestinal obstruction / ileus - Mediastinal / hilar adenopathies - Nausea / vomiting / regurgitation / merycism / hyperemesis - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Anaemia - Ascitis - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Nose / nasal sinus neoplasm / tumor / carcinoma / cancer - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Testis anomalies - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
17q11 microdeletion syndrome
(no data available)